ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg)

gnomAD frequency: 0.00013  dbSNP: rs773007457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651475 SCV000773327 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-06-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 541249). This variant is present in population databases (rs773007457, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 545 of the ERCC4 protein (p.Gly545Arg).
Sema4, Sema4 RCV002257912 SCV002537731 uncertain significance Xeroderma pigmentosum 2022-01-04 criteria provided, single submitter curation

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